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العنوان
Elucidation of the molecular basis of dilated cardiomyopathy in a sample of pediatric patients using next generation sequencing /
الناشر
Amira Kotb Abdallah Mohamed ,
المؤلف
Amira Kotb Abdallah Mohamed
هيئة الاعداد
باحث / Amira Kotb Abdallah Mohamed
مشرف / Nadida Abdelhamide Gohar
مشرف / Zeinab Salah Selim
مشرف / Reham Assem Zeyada
تاريخ النشر
2019
عدد الصفحات
152 P. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الكيمياء الحيوية (الطبية)
تاريخ الإجازة
17/7/2019
مكان الإجازة
جامعة القاهرة - كلية الطب - Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

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Abstract

Back groung: Dilated cardiomyopathy is defined as the presence of left ventricular (LV) or biventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions. Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Purpose: Elucidation of the genetic basis of dilated cardiomyopathy among Egyptian pediatric patients using targeted NGS. Methodology: The study was conducted on 55 DCM patients (48 sporadic and 7 familial), using 2Trusight cardio kit gene panel3 followed by sanger sequencing for confirmation of mutation